Incidental Mutation 'IGL02413:Vmn1r45'
ID |
292322 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r45
|
Ensembl Gene |
ENSMUSG00000044248 |
Gene Name |
vomeronasal 1 receptor 45 |
Synonyms |
V1ra2, V1r2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL02413
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
89908632-89917489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89910503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 36
(S36G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054202]
[ENSMUST00000226167]
[ENSMUST00000227122]
[ENSMUST00000227426]
[ENSMUST00000227571]
[ENSMUST00000227977]
[ENSMUST00000228492]
[ENSMUST00000228662]
|
AlphaFold |
Q8VIC7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054202
AA Change: S156G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052123 Gene: ENSMUSG00000044248 AA Change: S156G
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
26 |
315 |
2.5e-10 |
PFAM |
Pfam:V1R
|
54 |
318 |
1.5e-136 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226167
AA Change: S36G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227122
AA Change: S36G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227426
AA Change: S156G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227571
AA Change: S36G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227977
AA Change: S156G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228492
AA Change: S36G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228662
AA Change: S156G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
Other mutations in Vmn1r45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Vmn1r45
|
APN |
6 |
89,910,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Vmn1r45
|
APN |
6 |
89,910,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02124:Vmn1r45
|
APN |
6 |
89,910,035 (GRCm39) |
missense |
probably benign |
0.03 |
R0123:Vmn1r45
|
UTSW |
6 |
89,910,492 (GRCm39) |
nonsense |
probably null |
|
R0225:Vmn1r45
|
UTSW |
6 |
89,910,492 (GRCm39) |
nonsense |
probably null |
|
R1513:Vmn1r45
|
UTSW |
6 |
89,910,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R2154:Vmn1r45
|
UTSW |
6 |
89,910,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3082:Vmn1r45
|
UTSW |
6 |
89,910,724 (GRCm39) |
missense |
probably benign |
0.03 |
R3781:Vmn1r45
|
UTSW |
6 |
89,910,799 (GRCm39) |
missense |
probably benign |
|
R4982:Vmn1r45
|
UTSW |
6 |
89,910,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R5086:Vmn1r45
|
UTSW |
6 |
89,910,082 (GRCm39) |
missense |
probably benign |
0.06 |
R5327:Vmn1r45
|
UTSW |
6 |
89,910,123 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5470:Vmn1r45
|
UTSW |
6 |
89,910,698 (GRCm39) |
missense |
probably benign |
0.04 |
R6681:Vmn1r45
|
UTSW |
6 |
89,910,985 (GRCm39) |
start gained |
probably benign |
|
R7046:Vmn1r45
|
UTSW |
6 |
89,910,538 (GRCm39) |
missense |
probably benign |
0.00 |
R7050:Vmn1r45
|
UTSW |
6 |
89,910,703 (GRCm39) |
missense |
probably damaging |
0.97 |
R7171:Vmn1r45
|
UTSW |
6 |
89,910,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R7236:Vmn1r45
|
UTSW |
6 |
89,910,133 (GRCm39) |
missense |
probably benign |
0.15 |
R7401:Vmn1r45
|
UTSW |
6 |
89,910,416 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7417:Vmn1r45
|
UTSW |
6 |
89,910,035 (GRCm39) |
missense |
probably benign |
0.03 |
R8068:Vmn1r45
|
UTSW |
6 |
89,910,261 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8223:Vmn1r45
|
UTSW |
6 |
89,910,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R8942:Vmn1r45
|
UTSW |
6 |
89,910,876 (GRCm39) |
missense |
probably benign |
0.00 |
RF019:Vmn1r45
|
UTSW |
6 |
89,910,091 (GRCm39) |
missense |
probably damaging |
0.99 |
X0026:Vmn1r45
|
UTSW |
6 |
89,910,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |